Expression patterns, functional annotation and animal models can provide important clues to pathogenicity in some cases, but without knowledge of the phenotypic effects of a copy number alteration in humans, one can rarely, if ever, be certain whether a novel gain or loss of a particular genomic region can produce ID or other birth defects.
By contrast, our measurement of the effect of a single copy of the IgH intronic enhancer showed that this enhancer increases expression by at least 50 fold.
It is also lower than the effect of a single copy of the BMP15 gene that contains either the Hanna [ 23] or Inverdale [ 24] mutations, the Belclare or Galway mutations [ 19], or the Rasa Aragonesa [ 20], Lacaune [ 7] or Olkuska [ 17] mutations.
On the other hand, relating the phenotype to what is known in literature on the effect of a rare copy number variant will highly depend on the background of the laboratory specialist (in some countries, cytogeneticists are clinical geneticists) and the referring clinician.
Its has the effect that a copy of the email is piped through the vacation program.
Fortunately, both effects work on a copy of the image, so the original is unmarred.
The size of the effect of one copy of a mutation on ovulation rate ranges from an extra 0.4 ovulations per oestrus for the FecX2 mutation to an extra 1.5 ovulations per oestrus for the BMPR-1B mutation.
Our results indicate that CNVs detected by arrays may be the coincidental co-localization of smaller CNVs, whose presence is more likely to perturb an aCGH hybridization profile than the effect of an isolated, small, copy number alteration.
Thirdly, we also cannot rule out an indirect effect of CCL3L1 copy number mediated by an effect on CD4+ levels immediately after seroconversion, which have been shown to affect immune reconstitution [ 40].
If this is the case we might expect to see an effect of Asp84 copy number on EFS.
However, other mechanisms for an effect of CCL3L1 copy number can be invisaged, either directly or indirectly by affecting other immunological phenotypes such as the CD4+ cell count.
